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| created at |
2024-09-23 05:55:30 UTC |
| updated at |
2024-09-23 18:21:54 UTC |
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The OMIM entries, compiled in the following way.
1. The original entries were downloaded from BioPortal, on Sep. 23, 2024.
2. Only the original OMIM entries were extracted, which excluded the STY and MTHU entries.
Namespace for Semantic Web: http://purl.bioontology.org/ontology/OMIM/
Namespace for the OMIM web pages: https://www.omim.org/entry/
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116,330 entries
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There is 0 pattern entry.
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CDS
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275630 |
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DCS
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275630 |
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NLSDI
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275630 |
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CHANARIN-DORFMAN DISEASE
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275630 |
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CHANARIN-DORFMAN SYNDROME
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275630 |
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DORFMAN-CHANARIN SYNDROME
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275630 |
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TRIGLYCERIDE STORAGE DISEASE WITH IMPAIRED LONG-CHAIN FATTY ACID OXIDATION
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275630 |
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ICHTHYOTIC NEUTRAL LIPID STORAGE DISEASE
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275630 |
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NEUTRAL LIPID STORAGE DISEASE WITH ICHTHYOSIS
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275630 |
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ICHTHYOSIFORM ERYTHRODERMA WITH LEUKOCYTE VACUOLATION
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275630 |
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